M
Michael Snyder
Researcher at Stanford University
Publications - 938
Citations - 150929
Michael Snyder is an academic researcher from Stanford University. The author has contributed to research in topics: Gene & Genome. The author has an hindex of 169, co-authored 840 publications receiving 130225 citations. Previous affiliations of Michael Snyder include Wyss Institute for Biologically Inspired Engineering & Public Health Research Institute.
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Proceedings ArticleDOI
PATH-SCAN: a reporting tool for identifying clinically actionable variants.
Roxana Daneshjou,Zachary Zappala,Kimberly R. Kukurba,Sean Michael Boyle,Kelly E. Ormond,Teri E. Klein,Michael Snyder,Carlos Bustamante,Russ B. Altman,Stephen B. Montgomery +9 more
TL;DR: A web-based tool is developed, PATH-SCAN, which annotates individual genomes and exomes for ClinVar designated pathogenic variants found within the genes from the ACMG guidelines, which will allow individuals or researchers to identify potential risk variants in order to consult physicians or genetic counselors for further evaluation.
Journal ArticleDOI
Whole-Exome Enrichment with the Roche NimbleGen SeqCap EZ Exome Library SR Platform
TL;DR: This protocol is based on the Roche NimbleGen SeqCap EZ Exome Library SR platform, which enriches for ∼44 Mb of the human exonic regions, and can be performed at the benchside without the need for automation.
Journal ArticleDOI
Comprehensive whole-genome sequencing of an early-stage primary myelofibrosis patient defines low mutational burden and non-recurrent candidate genes.
Jason D. Merker,Krishna M. Roskin,Dana Ng,Cuiping Pan,Dianna G. Fisk,Jasmine J. King,Ramona A. Hoh,Michael Stadler,Lawrence M. Okumoto,Parveen Abidi,Rhonda Hewitt,Carol D. Jones,Linda Gojenola,Michael J. Clark,Bing Zhang,Athena M. Cherry,Tracy I. George,Michael Snyder,Scott D. Boyd,James L. Zehnder,Andrew Fire,Jason Gotlib +21 more
TL;DR: High-coverage genome sequencing of DNA from peripheral blood granulocytes and cultured skin fibroblasts from a patient with MPL W515K-positive primary myelofibrosis found three somatic mutations of potential functional significance, consistent with that observed in similar hematopoietic tumor genomes.
Journal ArticleDOI
The metabolomics of human aging: Advances, challenges, and opportunities
TL;DR: The growing body of population-scale metabolomics research on aging in humans is reviewed, identifying the major trends in the field, implicated biological pathways, and how these pathways relate to health and aging.
Journal ArticleDOI
Metadata Checklist for the Integrated Personal Omics Study: Proteomics and Metabolomics Experiments.
Michael Snyder,George I. Mias,Larissa Stanberry,Larissa Stanberry,Eugene Kolker,Eugene Kolker +5 more
TL;DR: This article is a data publication that provides the checklists for the metadata of the proteomics and metabolomics datasets of the integrative personal omics profiling study and calls for the broader use of data publications using the metadata checklist to make omics data more discoverable, interpretable, and reusable.